Isolation and structure of the COL4A6 gene encoding the human α6(IV) collagen chain and comparison with other type IV collagen genes

T. Oohashi, Yasuyoshi Ueki, M. Sugimoto, Y. Ninomiya

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

The genes COL4A5 and COL4A6, coding for the basement membrane collagen chains, α5(IV) and α6(IV), respectively, are located head-to-head in close proximity on human chromosome Xq22, and COL4A6 is transcribed from two alternative promoters in a tissue-specific fashion (Sugimoto M., Oohashi T., and Ninomiya Y. (1994) Proc. Natl. Acad. Sci. U. S. A. 91, 11679-11683). Immunofluorescence studies using α chain-specific antibodies demonstrated that the two genes are expressed in a tissue-specific manner (Ninomiya, Y., Kagawa, M., Iyama, K., Naito, I., Kishiro, Y., Seyer, J. M., Sugimoto, M., Oohashi, T., and Sado, Y. (1995) J. Cell Biol. 130, 1219-1229). We report here for the first time the isolation and the structural organization of the human COL4A6 gene. The entire gene presumably exceeds 200 kilobase pairs and contains 46 exons. Exons 1' and 1 encode the two different 5'-UTRs and the two amino-terminal parts of the signal peptide. The carboxyl part of the signal peptide and the 7 S domain are coded for by the following 6 different exons, 2-7, whereas the exons 7-42 encode the central COL 1 domain, which contains the Gly-X-Y repeats. The last three exons, 4345, encode the carboxyl-terminal NC1 domain. Sizes of more than a half of the exons of the gene are the same as those of Col4a2 but quite different from those of COL4A5. Within the COL4A6 gene we found three CA repeat markers that can be used for allele detection. The detailed structure of the COL4A6 gene and the high heterozygosity microsatellite markers located within the gene will be useful for linkage analysis and familial diagnosis of diseases caused by mutations of this gene.

Original languageEnglish (US)
Pages (from-to)26863-26867
Number of pages5
JournalJournal of Biological Chemistry
Volume270
Issue number45
DOIs
StatePublished - Jan 1 1995
Externally publishedYes

Fingerprint

Gene encoding
Collagen Type IV
Collagen
Genes
Exons
Protein Sorting Signals
Tissue
5' Untranslated Regions
Human Chromosomes
Chromosomes
Basement Membrane
Microsatellite Repeats
Fluorescent Antibody Technique
Alleles
Mutation
Antibodies

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Isolation and structure of the COL4A6 gene encoding the human α6(IV) collagen chain and comparison with other type IV collagen genes. / Oohashi, T.; Ueki, Yasuyoshi; Sugimoto, M.; Ninomiya, Y.

In: Journal of Biological Chemistry, Vol. 270, No. 45, 01.01.1995, p. 26863-26867.

Research output: Contribution to journalArticle

@article{017210e073d848eea5998f2c3fb45781,
title = "Isolation and structure of the COL4A6 gene encoding the human α6(IV) collagen chain and comparison with other type IV collagen genes",
abstract = "The genes COL4A5 and COL4A6, coding for the basement membrane collagen chains, α5(IV) and α6(IV), respectively, are located head-to-head in close proximity on human chromosome Xq22, and COL4A6 is transcribed from two alternative promoters in a tissue-specific fashion (Sugimoto M., Oohashi T., and Ninomiya Y. (1994) Proc. Natl. Acad. Sci. U. S. A. 91, 11679-11683). Immunofluorescence studies using α chain-specific antibodies demonstrated that the two genes are expressed in a tissue-specific manner (Ninomiya, Y., Kagawa, M., Iyama, K., Naito, I., Kishiro, Y., Seyer, J. M., Sugimoto, M., Oohashi, T., and Sado, Y. (1995) J. Cell Biol. 130, 1219-1229). We report here for the first time the isolation and the structural organization of the human COL4A6 gene. The entire gene presumably exceeds 200 kilobase pairs and contains 46 exons. Exons 1' and 1 encode the two different 5'-UTRs and the two amino-terminal parts of the signal peptide. The carboxyl part of the signal peptide and the 7 S domain are coded for by the following 6 different exons, 2-7, whereas the exons 7-42 encode the central COL 1 domain, which contains the Gly-X-Y repeats. The last three exons, 4345, encode the carboxyl-terminal NC1 domain. Sizes of more than a half of the exons of the gene are the same as those of Col4a2 but quite different from those of COL4A5. Within the COL4A6 gene we found three CA repeat markers that can be used for allele detection. The detailed structure of the COL4A6 gene and the high heterozygosity microsatellite markers located within the gene will be useful for linkage analysis and familial diagnosis of diseases caused by mutations of this gene.",
author = "T. Oohashi and Yasuyoshi Ueki and M. Sugimoto and Y. Ninomiya",
year = "1995",
month = "1",
day = "1",
doi = "10.1074/jbc.270.45.26863",
language = "English (US)",
volume = "270",
pages = "26863--26867",
journal = "Journal of Biological Chemistry",
issn = "0021-9258",
publisher = "American Society for Biochemistry and Molecular Biology Inc.",
number = "45",

}

TY - JOUR

T1 - Isolation and structure of the COL4A6 gene encoding the human α6(IV) collagen chain and comparison with other type IV collagen genes

AU - Oohashi, T.

AU - Ueki, Yasuyoshi

AU - Sugimoto, M.

AU - Ninomiya, Y.

PY - 1995/1/1

Y1 - 1995/1/1

N2 - The genes COL4A5 and COL4A6, coding for the basement membrane collagen chains, α5(IV) and α6(IV), respectively, are located head-to-head in close proximity on human chromosome Xq22, and COL4A6 is transcribed from two alternative promoters in a tissue-specific fashion (Sugimoto M., Oohashi T., and Ninomiya Y. (1994) Proc. Natl. Acad. Sci. U. S. A. 91, 11679-11683). Immunofluorescence studies using α chain-specific antibodies demonstrated that the two genes are expressed in a tissue-specific manner (Ninomiya, Y., Kagawa, M., Iyama, K., Naito, I., Kishiro, Y., Seyer, J. M., Sugimoto, M., Oohashi, T., and Sado, Y. (1995) J. Cell Biol. 130, 1219-1229). We report here for the first time the isolation and the structural organization of the human COL4A6 gene. The entire gene presumably exceeds 200 kilobase pairs and contains 46 exons. Exons 1' and 1 encode the two different 5'-UTRs and the two amino-terminal parts of the signal peptide. The carboxyl part of the signal peptide and the 7 S domain are coded for by the following 6 different exons, 2-7, whereas the exons 7-42 encode the central COL 1 domain, which contains the Gly-X-Y repeats. The last three exons, 4345, encode the carboxyl-terminal NC1 domain. Sizes of more than a half of the exons of the gene are the same as those of Col4a2 but quite different from those of COL4A5. Within the COL4A6 gene we found three CA repeat markers that can be used for allele detection. The detailed structure of the COL4A6 gene and the high heterozygosity microsatellite markers located within the gene will be useful for linkage analysis and familial diagnosis of diseases caused by mutations of this gene.

AB - The genes COL4A5 and COL4A6, coding for the basement membrane collagen chains, α5(IV) and α6(IV), respectively, are located head-to-head in close proximity on human chromosome Xq22, and COL4A6 is transcribed from two alternative promoters in a tissue-specific fashion (Sugimoto M., Oohashi T., and Ninomiya Y. (1994) Proc. Natl. Acad. Sci. U. S. A. 91, 11679-11683). Immunofluorescence studies using α chain-specific antibodies demonstrated that the two genes are expressed in a tissue-specific manner (Ninomiya, Y., Kagawa, M., Iyama, K., Naito, I., Kishiro, Y., Seyer, J. M., Sugimoto, M., Oohashi, T., and Sado, Y. (1995) J. Cell Biol. 130, 1219-1229). We report here for the first time the isolation and the structural organization of the human COL4A6 gene. The entire gene presumably exceeds 200 kilobase pairs and contains 46 exons. Exons 1' and 1 encode the two different 5'-UTRs and the two amino-terminal parts of the signal peptide. The carboxyl part of the signal peptide and the 7 S domain are coded for by the following 6 different exons, 2-7, whereas the exons 7-42 encode the central COL 1 domain, which contains the Gly-X-Y repeats. The last three exons, 4345, encode the carboxyl-terminal NC1 domain. Sizes of more than a half of the exons of the gene are the same as those of Col4a2 but quite different from those of COL4A5. Within the COL4A6 gene we found three CA repeat markers that can be used for allele detection. The detailed structure of the COL4A6 gene and the high heterozygosity microsatellite markers located within the gene will be useful for linkage analysis and familial diagnosis of diseases caused by mutations of this gene.

UR - http://www.scopus.com/inward/record.url?scp=0028820675&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028820675&partnerID=8YFLogxK

U2 - 10.1074/jbc.270.45.26863

DO - 10.1074/jbc.270.45.26863

M3 - Article

C2 - 7592929

AN - SCOPUS:0028820675

VL - 270

SP - 26863

EP - 26867

JO - Journal of Biological Chemistry

JF - Journal of Biological Chemistry

SN - 0021-9258

IS - 45

ER -